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Neuropediatrics 1982; 13(2): 103-107
DOI: 10.1055/s-2008-1059607
DOI: 10.1055/s-2008-1059607
Glycogen Storage Myopathy with Abnormal Lactate Dehydrogenase
Further Information
Publication History
Publication Date:
14 May 2008 (online)
Abstract
We studied a 3 year old girl with mental retardation and limb muscle weakness. The muscle glycogen content was 17.4 mg/g tissue, which was approximately three times higher than normal. There were no other known abnormalities noted in this child that could explain the cause of glycogen storage disease. Our in vitro glycolysis study showed marked increase of pyruvate, but no increase in lactate levels.
The observed results suggested to us that an abnormal lactate dehydrogenase might account for the abnormal accumulation of glycogen in the muscle.
Key words
Glycogen myopathy - Lactate dehydrogenase